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Variant : CV247968 (GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3) Homo sapiens

Symbol: CV247968
Name: GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3
Condition: See cases [RCV000240308]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ABCG4   APOA1   APOA4   APOA5   APOC3   ARCN1   ARHGEF12   ATP5MG   BACE1   BACE1-AS   BCL9L   BUD13   C1QTNF5   C2CD2L   CADM1   CBL   CCDC153   CCDC84   CD3D   CD3E   CD3G   CEP164   CXCR5   DDX6   DPAGT1   DSCAML1   FOXR1   FXYD2   FXYD6   FXYD6-FXYD2   GRIK4   H2AX   HINFP   HMBS   HYOU1   IFT46   IL10RA   JAML   KMT2A   MCAM   MFRP   MPZL2   MPZL3   NECTIN1   NLRX1   OAF   PAFAH1B2   PCSK7   PDZD3   PHLDB1   POU2F3   RNF214   RNF26   RPS25   SCN2B   SCN4B   SIDT2   SIK3   SLC37A4   TAGLN   THY1   TLCD5   TMEM25   TMPRSS13   TMPRSS4   TRAPPC4   TREH   TRIM29   TTC36   UBE4A   UPK2   USP2   VPS11   ZPR1  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh3711115,215,434 - 120,559,928CLINVAR
Cytogenetic Map1111q23.3CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 11541728
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-05-19
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.